Variant report

Variant	rs943471
Chromosome Location	chr6:33738314-33738315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33738202..33740373-chr6:34111521..34114051,2	K562	blood:
2	chr6:33733421..33736486-chr6:33736727..33739454,3	K562	blood:
3	chr6:33723585..33725981-chr6:33736190..33738429,2	MCF-7	breast:
4	chr6:33677151..33680603-chr6:33737180..33740397,3	MCF-7	breast:
5	chr6:33738171..33740892-chr6:33996773..33998948,2	K562	blood:
6	chr6:33733658..33736198-chr6:33737954..33739952,2	K562	blood:
7	chr6:33725418..33728218-chr6:33736581..33739360,2	MCF-7	breast:
8	chr6:33683560..33685755-chr6:33736435..33739209,2	MCF-7	breast:
9	chr6:33736224..33739190-chr6:33745201..33746852,2	MCF-7	breast:
10	chr6:33717026..33719225-chr6:33737928..33740540,2	MCF-7	breast:
11	chr6:33737959..33740435-chr6:34032927..34035702,2	K562	blood:
12	chr6:33734585..33738916-chr6:33755602..33758855,4	MCF-7	breast:
13	chr6:33698259..33701003-chr6:33736395..33738930,2	K562	blood:
14	chr6:33729337..33731009-chr6:33738048..33739817,2	MCF-7	breast:
15	chr6:33558047..33560338-chr6:33737884..33740577,2	K562	blood:
16	chr6:33734392..33738843-chr6:33747253..33751824,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137288	Chromatin interaction
ENSG00000124493	Chromatin interaction
ENSG00000161904	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12173787	0.89[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12190029	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1359781	0.81[YRI][hapmap];0.89[AFR][1000 genomes]
rs2281820	0.92[JPT][hapmap];0.89[EUR][1000 genomes]
rs2296744	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2296746	0.91[AFR][1000 genomes]
rs2296748	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs2395402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711347	0.96[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4711348	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711355	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713678	0.82[EUR][1000 genomes]
rs4713679	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4713682	0.88[AFR][1000 genomes]
rs6457741	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6922275	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6929696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs747694	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs751726	0.86[AFR][1000 genomes]
rs7774620	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9357164	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394166	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs9394167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs943474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs943475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs943478	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs943479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv462898	chr6:33723383-33768897	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv602840	chr6:33723383-33768897	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33730000-33738600	Weak transcription	A549	lung
2	chr6:33730200-33738400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:33730600-33738600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:33730800-33738600	Weak transcription	Liver	Liver
5	chr6:33731400-33738400	Weak transcription	Spleen	Spleen
6	chr6:33732600-33742400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:33735000-33739600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:33735200-33740000	Enhancers	Fetal Lung	lung
9	chr6:33735400-33739600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:33735800-33738800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr6:33736000-33738400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:33736000-33739600	Enhancers	Colon Smooth Muscle	Colon
13	chr6:33736200-33738600	Enhancers	HSMM	muscle
14	chr6:33736200-33738800	Enhancers	Stomach Smooth Muscle	stomach
15	chr6:33736200-33739200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:33736200-33739600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:33736200-33740600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:33736400-33738800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr6:33736400-33739600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:33736400-33739600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:33736400-33739600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:33736400-33740000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:33736600-33738600	Weak transcription	Thymus	Thymus
24	chr6:33736600-33739000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:33736600-33740000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:33736600-33740000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:33736600-33740000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:33736600-33740200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:33736600-33740200	Enhancers	HUVEC	blood vessel
30	chr6:33736800-33738400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:33736800-33739600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:33736800-33740000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:33736800-33740000	Weak transcription	GM12878-XiMat	blood
34	chr6:33736800-33740200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:33736800-33741000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:33736800-33743400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:33737000-33738400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:33737000-33740000	Weak transcription	HepG2	liver
39	chr6:33737200-33738400	Enhancers	Fetal Brain Male	brain
40	chr6:33737200-33738600	Enhancers	Fetal Intestine Small	intestine
41	chr6:33737400-33738400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:33737400-33739600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:33737400-33739600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:33737400-33739800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:33737400-33739800	Enhancers	NHLF	lung
46	chr6:33737400-33740200	Enhancers	NH-A	brain
47	chr6:33737600-33738600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:33737600-33739000	Enhancers	Aorta	Aorta
49	chr6:33737600-33739000	Enhancers	Lung	lung
50	chr6:33737600-33739600	Enhancers	Brain Hippocampus Middle	brain

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